FDA suspicious of 23andMe genome-testing kit, demands evaluation

The DNA Analysis company 23andMe has become a popular, low-cost way for individuals to analyze their genome and determine what genes they might be carrying for specific diseases or disorders, as well as a means of tracing one’s ancestry. As of last Friday, however, the FDA has brought the company’s activities to a screeching halt. 23andMe is now prohibited from selling any of its DNA analysis kits until it receives FDA authorization for the device.

So why is the FDA taking action to block 23andMe after years of allowing the product to be sold? According to the letter, 23andMe has increased the number of claims it makes for its product regarding the total number of genetic factors it can analyze and the conditions it detects — but has failed to submit proof of the efficacy of its detection methods or the error rate.

Bureaucratic red tape, or fundamental problem?

The FDA reports that it’s been working with 23AndMe to resolve these issues for years, and that the agency has informed 23andMe of numerous problems with its submitted documents. More than five years after 23andMe began selling its product, “we still do not have any assurance that the firm has analytically or clinically validated the PGS for its intended uses.”

In January 2013, 23andMe told the FDA that it was “completing the additional analytical and clinical validations for the tests that have been submitted,” but that test data has not been sent to the FDA as of this writing.

One thing we can speak to is the expanded number of tests. Thanks to the WayBack Machine, a quick check of the reports indicates that in 2011, 23andMe claimed to test carrier status for 24 conditions, 20 drug responses, 113 disease risks, and 51 specific traits. Today, 23andMe claims to test carrier status on 53 conditions, 25 drug responses, 122 disease risks, and 60 specific traits. That’s an increase of 25%.

Assuming the company added traits and tests between 2009 and 2011 (the earliest we could see on WayBack), then yes, it’s definitely expanded the list of traits and characteristics it evaluates. Without knowing exactly what 23andMe has submitted, we can’t make a ruling on how troubling its test omissions are, but the FDA isn’t wrong when it says that the results of these tests could have a definite impact on consumer behavior. When it comes to medication sensitivity tests or breast cancer detection, it’s important to demonstrate that the results are as accurate as possible; false positives and false negatives could both have profound consequences.

We reached out to 23andMe for comment but have yet to hear from the company. Tweets from Linda Avey, co-founder of 23andMe (she’s no longer with the company) have variously blamed “industrialized food and pharma run amok with most docs complicit in it” and then gone on to claim the FDA is persecuting 23andMe for being a small business. Given the enormous growth expected in the intersecting fields of big data, health analytics, and DNA analysis, this last is disingenuous. But we’ll update this story when 23andMe releases an official response.

The FDA letter gives 23andMe 15 days to either fix these problems or submit a timetable for fixing them. If the letter is accurate, and the company has failed to submit data demonstrating that it actually tests for what it tests for, that’s genuinely problematic. It’s critically important that such tests be accurate.